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. Author manuscript; available in PMC: 2022 Sep 2.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2022 Jun 2;23:301–329. doi: 10.1146/annurev-genom-121321-093528

Figure 3.

Figure 3

Genetic causes in a large JS cohort, showing the proportion of individuals with JS who carry two rare deleterious variants in each gene. Each bar is broken down to illustrate the relative frequency of the observed variants in each gene: Green indicates two missense variants or small in-frame indels, blue indicates one truncating and one missense variant (including small in-frame indels), red indicates two truncating variants (including nonsense, frameshift, and canonical splice-site variants), and yellow indicates two larger deletions. For each bar, n indicates the total number of people with JS who have variants assessed in this graph. Abbreviations: indel, insertion or deletion; JS, Joubert syndrome. Figure adapted from Reference 10.